 Gene Ontology Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cellular Component
Molecular Function
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
Save List to My RGD
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be send to {{ username }}
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Cellular Component
Molecular Function
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsBiological Process
|
Cellular Component
|
Molecular Function
|
References - curated| 1. | RGD automated import pipeline for gene-chemical interactions |
| 2. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
References - uncuratedGenomics
Comparative Map Data| PTAR1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ptar1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ptar1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ptar1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTAR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTAR1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ptar1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTAR1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D9S15 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RH36245 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| A004M30 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PTAR1__6945 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ATC-P10587 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WI-18349 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D9S15 |
|
miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001099666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001366935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001366936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001366937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001366938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001366939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001366940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005251980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AI937926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK127511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL162412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL832683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC053622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM785278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF458921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001099666 ⟹ NP_001093136 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
AACTGTCGCGGCCGCCGCCAACATGGCCGAGACCAGCGAGGAGGTGGCGGTGCTGGTGCAGCGGhide sequence |
| RefSeq Acc Id: | NM_001366935 ⟹ NP_001353864 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001366936 ⟹ NP_001353865 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001366937 ⟹ NP_001353866 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001366938 ⟹ NP_001353867 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001366939 ⟹ NP_001353868 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001366940 ⟹ NP_001353869 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NR_159515 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NR_159516 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NR_159517 | |||||||||
| RefSeq Status: | VALIDATED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | XM_005251980 ⟹ XP_005252037 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
TTCTCCGCGGAACTCCCGCCGGCGGCCCGGCTCACGCGGAGGCGCGCCCGAACTGTCGCGGCCGhide sequence |
| RefSeq Acc Id: | XM_011518639 ⟹ XP_011516941 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCACCCGCGCGCGCGCGCGCGCGCTCGTTCTCCGCGGAACTCCCGCCGGCGGCCCGGCTCACGhide sequence |
| RefSeq Acc Id: | XM_011518640 ⟹ XP_011516942 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGCCGAAGCACCCGCGCGCGCGCGCGCGCGCTCGTTCTCCGCGGAACTCCCGCCGGCGGCCCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001093136 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001353864 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001353865 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001353866 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001353867 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001353868 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001353869 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005252037 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516941 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516942 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH53622 | (Get FASTA) | NCBI Sequence Viewer |
| EAW62489 | (Get FASTA) | NCBI Sequence Viewer | |
| Q7Z6K3 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001093136 ⟸ NM_001099666 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q7Z6K3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLhide sequence |
| RefSeq Acc Id: | XP_005252037 ⟸ XM_005251980 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLhide sequence |
| RefSeq Acc Id: | XP_011516942 ⟸ XM_011518640 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLNPIKDLHLGKLALTKFPKShide sequence |
| RefSeq Acc Id: | XP_011516941 ⟸ XM_011518639 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MAETSEEVAVLVQRVVKDITNAFRRNPHIIDRCHMYPAASKPRLYHCMEREHCSSICKMRKNQQhide sequence |
| RefSeq Acc Id: | NP_001353867 ⟸ NM_001366938 |
| - Peptide Label: | isoform 5 |
| RefSeq Acc Id: | NP_001353864 ⟸ NM_001366935 |
| - Peptide Label: | isoform 2 |
| RefSeq Acc Id: | NP_001353869 ⟸ NM_001366940 |
| - Peptide Label: | isoform 7 |
| RefSeq Acc Id: | NP_001353868 ⟸ NM_001366939 |
| - Peptide Label: | isoform 6 |
| RefSeq Acc Id: | NP_001353866 ⟸ NM_001366937 |
| - Peptide Label: | isoform 4 |
| RefSeq Acc Id: | NP_001353865 ⟸ NM_001366936 |
| - Peptide Label: | isoform 3 |
Promoters| RGD ID: | 7215219 | |||||||||
| Promoter ID: | EPDNEW_H13356 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PTAR1_1 | |||||||||
| Description: | protein prenyltransferase alpha subunit repeat containing 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6807995 | |||||||||
| Promoter ID: | HG_KWN:63610 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | NM_001099666, OTTHUMT00000052581, OTTHUMT00000052582, OTTHUMT00000052584, OTTHUMT00000052586 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 | copy number loss | See cases [RCV000133632] | Chr9:68454847..76252863 [GRCh38] Chr9:71130848..78867779 [GRCh37] Chr9:70259583..78057599 [NCBI36] Chr9:9q21.11-21.13 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
| GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
| GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 | copy number loss | See cases [RCV000137529] | Chr9:68420349..70939579 [GRCh38] Chr9:71130848..73554495 [GRCh37] Chr9:70225085..72744315 [NCBI36] Chr9:9q21.11-21.12 |
likely pathogenic |
| GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 | copy number loss | See cases [RCV000137963] | Chr9:68499530..83670227 [GRCh38] Chr9:71130848..86285142 [GRCh37] Chr9:70304266..85474962 [NCBI36] Chr9:9q21.11-21.32 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
| GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 | copy number gain | See cases [RCV000143753] | Chr9:68624483..72028837 [GRCh38] Chr9:71239399..74643753 [GRCh37] Chr9:70429219..73833573 [NCBI36] Chr9:9q21.11-21.13 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 | copy number loss | See cases [RCV000511817] | Chr9:71079379..75905808 [GRCh37] Chr9:9q21.11-21.13 |
likely pathogenic |
| GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 | copy number gain | See cases [RCV000510725] | Chr9:68734571..83557267 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 | copy number loss | not provided [RCV000683169] | Chr9:68999534..84656998 [GRCh37] Chr9:9q21.11-21.32 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 | copy number loss | not provided [RCV000748447] | Chr9:68838523..83340723 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
| GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 | copy number loss | not provided [RCV000846367] | Chr9:70974661..81829792 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:30449 | AgrOrtholog |
| COSMIC | PTAR1 | COSMIC |
| Ensembl Genes | ENSG00000188647 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000344299 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000366405 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000405943 | UniProtKB/TrEMBL | |
| ENSP00000440164 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000340434 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000377200 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000415701 | UniProtKB/TrEMBL | |
| ENST00000472967 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000188647 | GTEx |
| HGNC ID | HGNC:30449 | ENTREZGENE |
| Human Proteome Map | PTAR1 | Human Proteome Map |
| InterPro | Prenyl_trans_a | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:375743 | UniProtKB/Swiss-Prot |
| NCBI Gene | 375743 | ENTREZGENE |
| Pfam | PPTA | UniProtKB/Swiss-Prot |
| PharmGKB | PA134897041 | PharmGKB |
| PROSITE | PFTA | UniProtKB/Swiss-Prot |
| UniGene | Hs.744192 | ENTREZGENE |
| UniProt | F5GXY1_HUMAN | UniProtKB/TrEMBL |
| J3KQP8_HUMAN | UniProtKB/TrEMBL | |
| PTAR1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| X6R9N0_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | Q5T7V5 | UniProtKB/Swiss-Prot |
| Q5T7V6 | UniProtKB/Swiss-Prot |
 |
| More on PTAR1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1313649 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
